Abstract
Summary Heredopathia atactica polyneuritiformis (HAP, Refsum's disease) has been shown to be an inherited lipid storage disease in which large amounts of an unusual fatty acid, phytanic acid (3, 7, 11, 15 tetra-methyl-hexadecanoic acid), accumulate in all body tissues. Refsum has pointed out that the main symptoms of this neurological disorder are retinitis pigmentosa, polyneuropathia, albuminocytological dissociation in the cerebrospinal fluid and cerebellar symptoms. It appears likely that the metabolic defect in Refsum's disease is present at birth and that the extent of phytanic acid accumulation in these patients is dependent on the intake. Steinberg and coworkers have shown that phytanic acid is not synthetized endogenously but originates in the diet and that the patients with HAP have a defect in oxydative pathway for degradation of phytanic acid. The relationship between phytanic acid accumulation and clinical symptoms will be discussed, as well as the results obtained by controlled dietary treatment.
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